Comparative somatic variant analysis of a rare case with concurrent oral leukoplakia and oral submucosal fibrosis

Oral leukoplakia (OL) and oral submucosal fibrosis (OSMF) are oral potentially malignant disorders caused due to same agent but with different phenotypes and differ in their risk for oral cancer progression. In rare cases, both conditions co-occur in the same individual allowing the identification of common and distinctive mutation signatures resulting from genetically identical cells exposed to same agent but with distinct outcomes. In this study, we performed whole-exome sequencing of a patient with concomitant OL and OSMF in the opposite cheeks using blood DNA as reference.